Wednesday, July 12, 2006

Organizing

OK. Now that we decided to do the preimplantation genetic diagnosis procedure (I'm going to start calling this PGD), we've got to get things organized. There's a lot to think about. I already had my prepregnancy checkup with my ob/gyn before I got my IP (Incontinentia Pigmenti) test, so that's taken care of (I'm in perfect health, she says). I guess the first thing we need to do is:

Meet with a genetic counselor.

My ob/gyn, before she abandoned me for Hawaii, said that if the test turned out positive, I should meet with a genetic counselor. Isn't it kind of amazing that there actually exists a person called "The Genetic Counselor"? Sounds kind of Star Trekky. Actually, I've done so much research on my disease and procedures now myself, I don't know what the counselor can tell me that we don't already know. However, it still seems like a good idea. My ob/gyn's office gave me a referral for one, so I'll call and set up an appointment.

The next big thing is:

2. Find a doctor/clinic/hospital/centre that does PGD's for my rare disease.

This could be difficult. There are only 3 centres in the world that even do testing for it, and I know the one in the U.S. doesn't do the procedure. I asked when I did my test. That probably means we will have to travel to the U.K. or Italy for the procedure. I doubt insurance will cover travel expenses. Speaking of insurance,

3. Figure out exactly what insurance will cover and what we'll have to pay.

About Me

I'm 27 & my husband is 33, and we are ready to have our first child. When I tested positive for Incontinentia Pigmenti, a rare genetic disease, we knew that our children would need a little help to get started. After doing research, we found that we would have to do a PGD - Preimplantation Genetic Diagnosis - on our embryos in order to be sure of not passing on the disease to our children. I wanted to read about other people's experiences going through the same procedure, but when I googled, I didn't find much. So, I decided to write a blog myself. I hope this helps other future parents that are planning to go through this procedure. If you have any questions for us, feel free to leave a comment and I'll get back to you.